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Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation

Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% had abnormalities such as ichthyosis, acanthosis, a...

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Principais autores: Christopher J. Smith, Jack L. Williams, Charlotte Hall, Josefina Casas, Matthew P. Caley, Edel A. O'Toole, Rathi Prasad, Louise A. Metherell
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2023-04-01
Serier:Journal of Lipid Research
Fag:
lipid lamellae imbalance
sphingolipid accumulation
organotypics
pyridoxal 5′-phosphate-dependent aldehyde lyase
differentiation
calcium signaling
Online adgang:http://www.sciencedirect.com/science/article/pii/S002222752300024X
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